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Pediatric Surgery International

Published in:

01-11-2010 | Original Article

Prenatal diagnosis of cloacal malformations

Authors: Andrea Bischoff, Marc A. Levitt, Foong Yen Lim, Carolina Guimarães, Alberto Peña

Published in: Pediatric Surgery International | Issue 11/2010

Abstract

Introduction

Prenatal diagnosis of anorectal malformations currently occurs in 0–15.9% of screened cases. In cloacas, these numbers are unknown. We speculate that some images from prenatal ultrasound studies may suggest the diagnosis of cloaca, but are not recognized because of a lack of suspicion for this diagnosis.

Methods

A retrospective review of the medical records of 489 patients born with cloaca was performed; 95 of them had prenatal ultrasound reports that represent the material analyzed for this study. A literature review was performed, finding 31 publications, with 68 cloaca patients detected by prenatal images. The abnormal findings of our patients were compared with those described in the literature to determine the most common abnormal prenatal images found in patients with cloaca.

Results

The 95 ultrasound reports found in our patients described 270 abnormalities, the most frequent were: abdominal/pelvic cystic/mass (39), hydronephrosis (36), oligohydramnios (23), distended bowel/bowel obstruction (19), ascites (15), 2 vessel cord (14), dilated bladder (14), dilated ureter (14), polyhydramnios (10), echogenic bowel (8), multicystic kidney (8), “ambiguous genitalia” (7), hydrops fetalis (7), hydrocolpos (4), absent kidney (3), abnormal spine (3), and anorectal atresia (3). In spite of these findings, the radiologists who interpreted the studies only suspected a cloaca in 6 cases (6%). The literature review showed 212 abnormalities in 68 demonstrated cloaca patients. The most frequent were: abdominal/pelvic cystic/mass (46), hydronephrosis (44), ascites (21), oligohydramnios (20), distended bowel (11), multicystic dysplastic kidney (7), ambiguous genitalia (6), non-visualization of the bladder (6), two-vessel cord (5), dilated bladder (5), intraabdominal calcification (4), polyhydramnios (4), enterolithiasis (4), hydrometrocolpos (3), and dilated ureter (3).

Conclusion

We conclude that it is possible to suspect the diagnosis of cloaca, prenatally, more frequently than what currently occurs, looking at the same images but with an increased index of suspicion for cystic abdominal masses and a combination of gastrointestinal and urological abnormalities.

Stoll C, Lembik Y, Dott B et al (1996) Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias. Eur J Epidemiol 12:611–616CrossRefPubMed

Baronciani D, Scaglia C, Corchia C et al (1995) Ultrasonography in pregnancy and fetal abnormalities: screening or diagnostic tests? IPIMC 1986–1990 register data. Prenat Diagn 15:1101–1108CrossRefPubMed

Brantberg A, Blaas HGK, Haugen SE et al (2006) Imperforate anus: a relatively common anomaly rarely diagnosed prenatally. Ultrasound Obstet Gynecol 28:904–910CrossRefPubMed

Bischoff A, Levitt MA, Breech L et al (2010) Hydrocolpos in cloacal malformations. J Pediatr Surg 45:1241–1245

Achiron R, Frydman M, Lipitz S et al (2000) Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins. Ultrasound Obstet Gynecol 16:571–574CrossRefPubMed

Shono T, Taguchi T, Suita S et al (2007) Prenatal ultrasonographic and magnetic resonance imaging findings of congenital cloacal anomalies associated with meconium peritonitis. J Pediatr Surg 42:681–684CrossRefPubMed

Hamada T, Hirose R, Kosaka T et al (2008) Giant cystic meconium peritonitis associated with a cloacal anomaly: case report. J Pediatr Surg 43:E21–E23CrossRefPubMed

Adams MC, Ludlow J, Brock JW et al (1998) Prenatal urinary ascites and persistent cloaca: risk factors for poor drainage of urine or meconium. J Urol 160:2179–2181CrossRefPubMed

Dhombres F, Jouannic JM, Brodaty G et al (2007) Contribution of prenatal imaging to the anatomical assessment of fetal hydrocolpos. Ultrasound Obstet Gynecol 30:101–104CrossRefPubMed

10.

Meyer SR, Smith KM, Ravish IR et al (2009) Complex cloacal anomaly in discordant monozygotic twins. Urology 73:532–534CrossRefPubMed

11.

Mori M, Matsubara K, Abe E et al (2007) Prenatal diagnosis of persistent cloaca associated with VATER (vertebral defects, anal atresia, tracheo-esophageal fistula, and renal dysplasia). Tohoku J Exp Med 213:291–295CrossRefPubMed

12.

Hung Y-H, Tsai C-C, Ou C-Y et al (2008) Late prenatal diagnosis of hydrometrocolpos secondary to a cloacal anomaly by abdominal ultrasonography with complementary magnetic resonance imaging. Taiwan J Obstet Gynecol 47:79–83CrossRefPubMed

13.

Hayashi S, Sago H, Kashima K et al (2005) Prenatal diagnosis of fetal hydrometrocolpos secondary to a cloacal anomaly by magnetic resonance imaging. Ultrasound Obstet Gynecol 26:577–579CrossRefPubMed

14.

Baier SR, Tank ES, Watson PT et al (2001) Persistent cloaca: prenatal diagnosis of hydrometrocolpos. JDMS 17:220–224

15.

Suzumori N, Obayashi S, Hattori Y et al (2009) Prenatal diagnosis of persistent cloaca. Congenital Anomalies 49:116–117CrossRefPubMed

16.

Warne S, Chitty LS, Wilcox DT (2002) Prenatal diagnosis of cloacal anomalies. BJU Int 89:78–81CrossRefPubMed

17.

Cilento BG Jr, Benacerraf BR, Mandell J (1994) Prenatal diagnosis of cloacal malformation. Urology 43:386–388CrossRefPubMed

18.

Cacciaguerra S, Lo Presti L, Di Leo L et al (1998) Prenatal diagnosis of cloacal anomaly. Scand J Urol Nephrol 32:77–80CrossRefPubMed

19.

Morikawa M, Yamada T, Cho K et al (2006) Prenatal diagnosis and therapy of persistent cloaca: a case report. Fetal Diagn Ther 21:342–347CrossRef

20.

Bang WJ, Lee HY, Han SW (2008) Clinical characteristics of children with persistent cloaca: a urological perspective. Korean J Urol 49:77–81CrossRef

21.

Zaccara A, Gatti C, Silveri M et al (1999) Persistent cloaca: are we ready for a correct prenatal diagnosis? Urology 54:367CrossRefPubMed

22.

Anderson S, Savader B, Barnes J et al (1988) Enterolithiasis with imperforate anus. Report of two cases with sonographic demonstration and occurrence in a female. Pediatr Radiol 18:130–133CrossRefPubMed

23.

Bruce Belin, Coterville JE, Langer JC (1995) How accurate is prenatal sonography for the diagnosis of imperforate anus and Hirschsprung’s disease? Pediatr Surg Int 10:30–32

24.

Shalev E, Feldman E, Weiner E et al (1986) Prenatal sonographic appearance of persistent cloaca. Acta Obstet Gynecol Scand 65:517–518CrossRefPubMed

25.

Petrikovsky BM, Walzak MP Jr, D’Addario PF (1988) Fetal cloacal anomalies: prenatal sonographic findings and differential diagnosis. Obstet Gynecol 72:464–469PubMed

26.

Cianciosi A, Mancini F, Busacchi P et al (2006) Increased amniotic fluid volume associated with cloacal and renal anomalies. J Ultrasound Med 25:1085–1090PubMed

27.

Geipel A, Berg C, Germer U et al (2001) Diagnostic and therapeutic problems in a case of prenatally detected fetal hydrocolpos. Ultrasound Obstet Gynecol 18:169–172CrossRefPubMed

28.

Picone O, Laperelle J, Sonigo P et al (2007) Fetal magnetic resonance imaging in the antenatal diagnosis and management of hydrocolpos. Ultrasound Obstet Gynecol 30:105–109CrossRefPubMed

29.

Lande IM, Hamilton EF (1986) The antenatal sonographic visualization of cloacal dysgenesis. J Ultrasound Med 5:275–278PubMed

30.

Odibo AO, Turner GW, Borgida AF et al (1997) Late prenatal ultrasound features of hydrometrocolpos secondary to cloacal anomaly: case reports and review of the literature. Ultrasound Obstet Gynecol 9:419–421CrossRefPubMed

31.

Ohno Y, Koyama N, Tsuda M et al (2000) Antenatal ultrasonographic appearance of a cloacal anomaly. Obstet Gyncecol 95:1013–1015CrossRef

32.

Shimada K, Hosokawa S, Matsumoto F et al (2001) Urological management of cloacal anomalies. Int J Urol 8:282–289CrossRefPubMed

33.

Hyett J (2008) Intra-abdominal masses: prenatal differential diagnosis and management. Prenat Diagn 28:645–655CrossRefPubMed

34.

Gaudin J, Le Treguilly C, Parent P et al (1988) Neonatal ovarian cysts. Twelve cysts with antenatal diagnosis. Pediatr Surg Int 3:158–164CrossRef

35.

Zampieri N, Borruto F, Zamboni C et al (2008) Foetal and neonatal ovarian cysts: a 5-year experience. Arch Gynecol Obstet 277:303–306CrossRefPubMed

36.

Perrotin F, Potin J, Haddad G et al (2000) Fetal ovarian cysts: a report of three cases managed by intrauterine aspiration. Ultrasound Obstet Gynecol 16:655–659CrossRefPubMed

37.

Galinier P, Carfagna L, Juricic M et al (2008) Fetal ovarian cysts management and ovarian prognosis: a report of 82 cases. J Pediatr Surg 43:2004–2009CrossRefPubMed

38.

Monnery-Noche ME, Auber F, Jouannic JM et al (2008) Fetal and neonatal ovarian cysts: is surgery indicated? Prenat Diagn 28:15–20CrossRefPubMed

39.

Garel L, Filiatrault D, Brandt M et al (1991) Antenatal diagnosis of ovarian cysts: natural history and therapeutic implications. Pediatr Radiol 21:182–184CrossRefPubMed

40.

Heling KS, Chaoui R, Kirchmair F et al (2002) Fetal ovarian cysts: prenatal diagnosis, management and postnatal outcome. Ultrasound Obstet Gynecol 20:47–50CrossRefPubMed

41.

Alexander CD, Kuller JA (2004) Fetal ovarian cyst. JDMS 20:431–435

42.

Degani S, Mogilner G, Shapiro I (1995) In utero sonographic appearance of intestinal duplication cysts. Ultrasound Obstet Gynecol 5:415–418CrossRefPubMed

43.

Foley PT, Sithasanan N, McEwing R et al (2003) Enteric duplications presenting as antenatally detected abdominal cysts: is delayed resection appropriate? J Pediatr Surg 38:1810–1813CrossRefPubMed

44.

Chen M, Lam YH, Lin CL et al (2002) Sonographic features of ileal duplication cyst at 12 weeks. Prenat Diagn 22:1067–1070CrossRefPubMed

45.

Puri P, Shinkai M (2005) Megacystis microcolon intestinal hypoperistalsis syndrome. Sem Pediatr Surg 14:58–63CrossRef

46.

McHugo J, Whittle M (2001) Enlarged fetal bladders: aetiology, management and outcome. Prenat Diagn 21:958–963CrossRefPubMed

Title: Prenatal diagnosis of cloacal malformations
Authors: Andrea Bischoff
Marc A. Levitt
Foong Yen Lim
Carolina Guimarães
Alberto Peña
Publication date: 01-11-2010
Publisher: Springer-Verlag
Published in: Pediatric Surgery International / Issue 11/2010
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-010-2685-3

At a glance: The STEP trials

Springer Medicine

Prenatal diagnosis of cloacal malformations

Abstract

Introduction

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusion

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